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Dyggve-Melchior-Clausen disease
Summary
- Synonym
-
- DMC disease
- pseudo-Morquio disease type I
- Definition
- A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.
- Super Class
- autosomal recessive disease spondyloepimetaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0111167
- Mondo Disease Ontology
- OMIM
- GARD
